Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Genome_Change	Annotation_Transcript	Transcript_Strand	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	DrugBank	i_ACHILLES_Top_Genes	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CCLE_SEQ_overlapping_mutations	i_CCLE_SEQ_total_mutations_in_gene	MUTSIG_Significant_Genes	OREGANNO_ID	OREGANNO_Values	i_tumor_f	i_init_t_lod	i_t_lod_fstar	i_t_alt_count	i_t_ref_count	i_normal_best_gt	i_failure_reasons	i_judgement	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	context_orig	context65	gene_name	newbase	categ	categ_ignoring_null_categ
SART1	9092	broad.mit.edu	36	11	65500473	65500473	+	Missense_Mutation	SNP	G	A	A			TCGA-14-1823-01	TCGA-14-1823-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:65500473G>A	uc001ogl.1	+	c.1604G>A	c.(1603-1605)CGC>CAC	p.R535H		NM_005146	NP_005137	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T	535					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				ovary(1)	1														0.346154	23.767028	24.310366	9	17	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65500473	65500473	14327	11	G	A	A	38	38	SART1	A	1	1
SLC38A1	81539	broad.mit.edu	36	12	44881152	44881152	+	Missense_Mutation	SNP	G	C	C			TCGA-14-1823-01	TCGA-14-1823-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:44881152G>C	uc009zkj.1	-	c.999C>G	c.(997-999)TTC>TTG	p.F333L	SLC38A1_uc001rpa.1_Missense_Mutation_p.F333L|SLC38A1_uc001rpb.1_Missense_Mutation_p.F333L|SLC38A1_uc001rpc.1_Missense_Mutation_p.F333L|SLC38A1_uc001rpd.1_Missense_Mutation_p.F333L|SLC38A1_uc001rpe.1_Missense_Mutation_p.F333L|SLC38A1_uc009zkk.1_Missense_Mutation_p.F306L	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	amino acid transporter system A1	333	Helical; (Potential).				cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			ovary(2)|central_nervous_system(1)	3	Lung SC(27;0.137)|Renal(347;0.236)													0.174603	24.884793	31.178769	11	52	GG		KEEP	---	---	---	---	capture	all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)		Missense_Mutation	SNP	44881152	44881152	15098	12	G	C	C	33	33	SLC38A1	C	3	3
FAM113B	91523	broad.mit.edu	36	12	45916380	45916380	+	Missense_Mutation	SNP	G	C	C			TCGA-14-1823-01	TCGA-14-1823-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:45916380G>C	uc001rpn.1	+	c.1267G>C	c.(1267-1269)GCC>CCC	p.A423P	FAM113B_uc001rpq.1_Missense_Mutation_p.A423P|FAM113B_uc009zko.1_Missense_Mutation_p.A423P	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	hypothetical protein LOC91523	423	Pro-rich.						hydrolase activity			ovary(2)	2	Renal(347;0.138)|Lung SC(27;0.192)													0.242424	7.391187	9.613988	8	25	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45916380	45916380	5599	12	G	C	C	42	42	FAM113B	C	3	3
OR6C6	283365	broad.mit.edu	36	12	53975099	53975099	+	Missense_Mutation	SNP	C	T	T			TCGA-14-1823-01	TCGA-14-1823-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:53975099C>T	uc001sgt.1	-	c.185G>A	c.(184-186)CGT>CAT	p.R62H		NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C,	62	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)	1														0.195122	51.2534	61.896601	24	99	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53975099	53975099	11604	12	C	T	T	19	19	OR6C6	T	1	1
GZMB	3002	broad.mit.edu	36	14	24170137	24170137	+	Missense_Mutation	SNP	T	C	C			TCGA-14-1823-01	TCGA-14-1823-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr14:24170137T>C	uc001wps.1	-	c.724A>G	c.(724-726)AAA>GAA	p.K242E	GZMB_uc010ama.1_Missense_Mutation_p.K230E|GZMB_uc010amb.1_Non-coding_Transcript	NM_004131	NP_004122	P10144	GRAB_HUMAN	granzyme B precursor	242	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity				0														0.198473	119.526536	141.735467	52	210	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.028)	Missense_Mutation	SNP	24170137	24170137	7196	14	T	C	C	62	62	GZMB	C	4	4
ACOT1	641371	broad.mit.edu	36	14	73073965	73073965	+	Missense_Mutation	SNP	G	C	C			TCGA-14-1823-01	TCGA-14-1823-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:73073965G>C	uc001xol.1	+	c.87G>C	c.(85-87)GAG>GAC	p.E29D	HEATR4_uc010art.1_Intron	NM_001037161	NP_001032238	Q86TX2	ACOT1_HUMAN	acyl-CoA thioesterase 1	29					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	cytosol	carboxylesterase activity|palmitoyl-CoA hydrolase activity				0														0.384615	7.793862	7.969799	5	8	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)	Missense_Mutation	SNP	73073965	73073965	149	14	G	C	C	34	34	ACOT1	C	3	3
KCNK13	56659	broad.mit.edu	36	14	89598601	89598601	+	Missense_Mutation	SNP	C	T	T			TCGA-14-1823-01	TCGA-14-1823-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:89598601C>T	uc001xye.1	+	c.299C>T	c.(298-300)GCC>GTC	p.A100V		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	100						integral to membrane	potassium channel activity|voltage-gated ion channel activity				0		all_cancers(154;0.186)												0.4	11.597687	11.685234	4	6	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	89598601	89598601	8366	14	C	T	T	26	26	KCNK13	T	2	2
MRPS11	64963	broad.mit.edu	36	15	86812239	86812239	+	Silent	SNP	T	C	C			TCGA-14-1823-01	TCGA-14-1823-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr15:86812239T>C	uc002bml.1	+	c.162T>C	c.(160-162)GCT>GCC	p.A54A	MRPL46_uc002bmi.1_5'Flank|MRPL46_uc002bmj.2_5'Flank|MRPL46_uc002bmk.2_5'Flank|MRPS11_uc002bmm.1_Silent_p.A54A|MRPS11_uc002bmn.1_Silent_p.A53A|MRPS11_uc010bnj.1_Non-coding_Transcript	NM_022839	NP_073750	P82912	RT11_HUMAN	mitochondrial ribosomal protein S11 isoform a	54					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	structural constituent of ribosome				0	Lung NSC(78;0.203)													0.32	9.388089	10.228926	8	17	TT		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.188)		Silent	SNP	86812239	86812239	10215	15	T	C	C	54	54	MRPS11	C	4	4
C18orf62	284274	broad.mit.edu	36	18	71268422	71268422	+	Missense_Mutation	SNP	G	A	A			TCGA-14-1823-01	TCGA-14-1823-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:71268422G>A	uc002lma.1	-	c.85C>T	c.(85-87)CGG>TGG	p.R29W	C18orf62_uc010dqw.1_Non-coding_Transcript|C18orf62_uc002lmb.1_Non-coding_Transcript	NM_001037331	NP_001032408	Q3B7S5	CR062_HUMAN	hypothetical protein LOC284274	29						integral to membrane					0		Esophageal squamous(42;0.131)|Prostate(75;0.155)												0.164948	57.677536	78.351731	32	162	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(15;6.21e-06)	Missense_Mutation	SNP	71268422	71268422	1968	18	G	A	A	40	40	C18orf62	A	1	1
LPHN1	22859	broad.mit.edu	36	19	14122999	14122999	+	Missense_Mutation	SNP	T	G	G			TCGA-14-1823-01	TCGA-14-1823-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:14122999T>G	uc002myg.1	-	c.4111A>C	c.(4111-4113)ACC>CCC	p.T1371P	LPHN1_uc002myh.1_Missense_Mutation_p.T1366P	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	1371	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(1)|central_nervous_system(1)	2														0.307692	7.907531	8.882326	8	18	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14122999	14122999	9288	19	T	G	G	59	59	LPHN1	G	4	4
FAM187B	148109	broad.mit.edu	36	19	40410724	40410724	+	Missense_Mutation	SNP	A	T	T			TCGA-14-1823-01	TCGA-14-1823-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40410724A>T	uc002nyk.1	-	c.700T>A	c.(700-702)TGT>AGT	p.C234S		NM_152481	NP_689694	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	234	Extracellular (Potential).					integral to membrane				ovary(2)	2														0.155556	11.402085	16.497912	7	38	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40410724	40410724	5723	19	A	T	T	7	7	FAM187B	T	4	4
ZIM3	114026	broad.mit.edu	36	19	62339221	62339221	+	Missense_Mutation	SNP	C	G	G			TCGA-14-1823-01	TCGA-14-1823-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:62339221C>G	uc002qnz.1	-	c.296G>C	c.(295-297)AGT>ACT	p.S99T		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)												0.145594	70.178271	101.703825	38	223	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	Missense_Mutation	SNP	62339221	62339221	18276	19	C	G	G	20	20	ZIM3	G	3	3
GLTPD1	80772	broad.mit.edu	36	1	1252829	1252829	+	Silent	SNP	C	T	T	rs307349	unknown	TCGA-14-1823-01	TCGA-14-1823-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:1252829C>T	uc001aeo.1	+	c.468C>T	c.(466-468)CGC>CGT	p.R156R	CPSF3L_uc001aee.1_5'Flank|CPSF3L_uc001aef.1_5'Flank|CPSF3L_uc009vjz.1_5'Flank|CPSF3L_uc001aeg.1_5'Flank|CPSF3L_uc001aeh.1_5'Flank|CPSF3L_uc001aei.1_5'Flank|CPSF3L_uc001aej.1_5'Flank|CPSF3L_uc001aek.1_5'Flank|CPSF3L_uc001aem.1_5'Flank|CPSF3L_uc001ael.1_5'Flank|CPSF3L_uc001aen.1_5'Flank	NM_001029885	NP_001025056	Q5TA50	GLTD1_HUMAN	glycolipid transfer protein domain containing 1	156						cytoplasm	glycolipid binding|glycolipid transporter activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)												0.1875	6.32041	7.779808	3	13	CC		KEEP	---	---	---	---	capture		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	Silent	SNP	1252829	1252829	6740	1	C	T	T	27	27	GLTPD1	T	1	1
FLG	2312	broad.mit.edu	36	1	150550318	150550318	+	Missense_Mutation	SNP	T	C	C			TCGA-14-1823-01	TCGA-14-1823-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:150550318T>C	uc001ezu.1	-	c.3668A>G	c.(3667-3669)GAC>GGC	p.D1223G		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1223	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)	9	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)													0.172263	262.145586	331.655931	118	567	TT		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.206)		Missense_Mutation	SNP	150550318	150550318	6160	1	T	C	C	58	58	FLG	C	4	4
F5	2153	broad.mit.edu	36	1	167756459	167756459	+	Missense_Mutation	SNP	C	T	T			TCGA-14-1823-01	TCGA-14-1823-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:167756459C>T	uc001ggg.1	-	c.6116G>A	c.(6115-6117)AGA>AAA	p.R2039K		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	2039	F5/8 type C 1.				cell adhesion|oxidation-reduction process|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)	5	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)									0.186441	9.346408	14.863014	11	48	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	167756459	167756459	5542	1	C	T	T	32	32	F5	T	2	2
TNR	7143	broad.mit.edu	36	1	173639260	173639260	+	Silent	SNP	C	T	T			TCGA-14-1823-01	TCGA-14-1823-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:173639260C>T	uc001gkp.1	-	c.615G>A	c.(613-615)CCG>CCA	p.P205P	TNR_uc009wwu.1_Silent_p.P205P	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R	205	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)													0.261649	170.407907	184.721646	73	206	CC		KEEP	---	---	---	---	capture			Silent	SNP	173639260	173639260	16879	1	C	T	T	27	27	TNR	T	1	1
PADI6	353238	broad.mit.edu	36	1	17594045	17594045	+	Missense_Mutation	SNP	G	A	A			TCGA-14-1823-01	TCGA-14-1823-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:17594045G>A	uc001bak.1	+	c.1349G>A	c.(1348-1350)CGG>CAG	p.R450Q		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	peptidylarginine deiminase type 6	442					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)			L-Citrulline(DB00155)									0.173077	17.847191	23.092308	9	43	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	Missense_Mutation	SNP	17594045	17594045	11797	1	G	A	A	39	39	PADI6	A	1	1
KIF17	57576	broad.mit.edu	36	1	20865310	20865310	+	Silent	SNP	G	A	A			TCGA-14-1823-01	TCGA-14-1823-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:20865310G>A	uc001bdr.2	-	c.2895C>T	c.(2893-2895)GAC>GAT	p.D965D	KIF17_uc001bdp.2_Silent_p.D242D|KIF17_uc001bdq.2_Silent_p.D243D|KIF17_uc009vpx.1_Silent_p.D335D|KIF17_uc001bds.2_Silent_p.D964D	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	965					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			ovary(3)	3		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)												0.242574	112.576845	124.784405	49	153	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	Silent	SNP	20865310	20865310	8590	1	G	A	A	40	40	KIF17	A	1	1
NR0B2	8431	broad.mit.edu	36	1	27112763	27112763	+	Missense_Mutation	SNP	G	A	A			TCGA-14-1823-01	TCGA-14-1823-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:27112763G>A	uc001bnf.1	-	c.256C>T	c.(256-258)CGG>TGG	p.R86W		NM_021969	NP_068804	Q15466	NR0B2_HUMAN	short heterodimer partner	86	Ligand-binding (By similarity).				cholesterol metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity				0		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)												0.267857	34.303284	37.027063	15	41	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)	Missense_Mutation	SNP	27112763	27112763	11019	1	G	A	A	38	38	NR0B2	A	1	1
POLR3F	10621	broad.mit.edu	36	20	18412194	18412194	+	Missense_Mutation	SNP	G	C	C			TCGA-14-1823-01	TCGA-14-1823-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:18412194G>C	uc002wqv.1	+	c.943G>C	c.(943-945)GAA>CAA	p.E315Q	POLR3F_uc002wqw.1_Non-coding_Transcript|POLR3F_uc002wqx.1_Missense_Mutation_p.E274Q	NM_006466	NP_006457	Q9H1D9	RPC6_HUMAN	DNA-directed RNA polymerase III 39 kDa	315					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|protein binding				0						GBM(69;898 1468 19907 52011)								0.230769	7.11782	7.981709	3	10	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18412194	18412194	12661	20	G	C	C	37	37	POLR3F	C	3	3
FAM83C	128876	broad.mit.edu	36	20	33343471	33343471	+	Silent	SNP	T	C	C			TCGA-14-1823-01	TCGA-14-1823-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr20:33343471T>C	uc002xca.1	-	c.51A>G	c.(49-51)GGA>GGG	p.G17G	FAM83C_uc002xcb.1_5'UTR	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	hypothetical protein LOC128876	17										ovary(2)	2														0.5	10.17048	10.17048	5	5	TT		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(18;0.00252)		Silent	SNP	33343471	33343471	5861	20	T	C	C	58	58	FAM83C	C	4	4
CEP250	11190	broad.mit.edu	36	20	33559026	33559026	+	Missense_Mutation	SNP	C	A	A			TCGA-14-1823-01	TCGA-14-1823-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:33559026C>A	uc002xcm.1	+	c.6682C>A	c.(6682-6684)CAC>AAC	p.H2228N	CEP250_uc002xcn.1_Missense_Mutation_p.H2172N	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2 isoform 1	2228					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)													0.357143	8.360026	8.615572	5	9	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(18;0.0106)		Missense_Mutation	SNP	33559026	33559026	3385	20	C	A	A	17	17	CEP250	A	3	3
HNF4A	3172	broad.mit.edu	36	20	42481826	42481826	+	Missense_Mutation	SNP	G	A	A			TCGA-14-1823-01	TCGA-14-1823-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:42481826G>A	uc002xma.1	+	c.788G>A	c.(787-789)CGG>CAG	p.R263Q	HNF4A_uc002xlt.1_Missense_Mutation_p.R241Q|HNF4A_uc002xlu.1_Missense_Mutation_p.R241Q|HNF4A_uc002xlv.1_Missense_Mutation_p.R241Q|HNF4A_uc002xly.1_Missense_Mutation_p.R263Q|HNF4A_uc002xlz.1_Missense_Mutation_p.R263Q|HNF4A_uc010ggq.1_Missense_Mutation_p.R256Q	NM_000457	NP_000448	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4 alpha isoform b	263					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|positive regulation of gene-specific transcription from RNA polymerase II promoter|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|promoter binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		Myeloproliferative disorder(115;0.0122)				Colon(79;2 1269 8820 14841 52347)								0.31746	105.75241	109.48698	40	86	GG		KEEP	---	---	---	---	capture	COAD - Colon adenocarcinoma(18;0.00189)		Missense_Mutation	SNP	42481826	42481826	7545	20	G	A	A	39	39	HNF4A	A	1	1
PABPC1L	80336	broad.mit.edu	36	20	42978836	42978836	+	Missense_Mutation	SNP	G	A	A			TCGA-14-1823-01	TCGA-14-1823-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:42978836G>A	uc010ggv.1	+	c.413G>A	c.(412-414)CGG>CAG	p.R138Q		NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN	poly(A)-binding protein, cytoplasmic 1-like	138	RRM 2.						nucleotide binding|RNA binding			ovary(1)	1														0.24375	172.106268	191.007301	78	242	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42978836	42978836	11777	20	G	A	A	39	39	PABPC1L	A	1	1
RBPJL	11317	broad.mit.edu	36	20	43371620	43371620	+	Splice_Site_SNP	SNP	G	T	T			TCGA-14-1823-01	TCGA-14-1823-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:43371620G>T	uc002xns.1	+	c.132_splice	c.e3-1	p.R44_splice	MATN4_uc002xnq.1_5'Flank|MATN4_uc002xnr.1_5'Flank|RBPJL_uc002xnt.1_Splice_Site_SNP_p.R44_splice	NM_014276	NP_055091			recombining binding protein L						regulation of transcription, DNA-dependent|signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)												0.176471	14.43726	19.480743	9	42	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	43371620	43371620	13631	20	G	T	T	35	35	RBPJL	T	5	3
CNTNAP5	129684	broad.mit.edu	36	2	125121929	125121929	+	Silent	SNP	C	T	T			TCGA-14-1823-01	TCGA-14-1823-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:125121929C>T	uc002tno.1	+	c.1998C>T	c.(1996-1998)GCC>GCT	p.A666A	CNTNAP5_uc010flu.1_Silent_p.A667A	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	666	Extracellular (Potential).|Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10														0.147059	7.650724	11.724173	5	29	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.248)	Silent	SNP	125121929	125121929	3788	2	C	T	T	23	23	CNTNAP5	T	1	1
THSD7B	80731	broad.mit.edu	36	2	137750026	137750026	+	Silent	SNP	G	A	A			TCGA-14-1823-01	TCGA-14-1823-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:137750026G>A	uc002tva.1	+	c.2367G>A	c.(2365-2367)ACG>ACA	p.T789T	THSD7B_uc002tvb.2_Silent_p.T679T	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7														0.134615	8.993047	15.723768	7	45	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.19)	Silent	SNP	137750026	137750026	16408	2	G	A	A	39	39	THSD7B	A	1	1
COBLL1	22837	broad.mit.edu	36	2	165259512	165259512	+	Missense_Mutation	SNP	T	C	C			TCGA-14-1823-01	TCGA-14-1823-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:165259512T>C	uc002ucp.1	-	c.2750A>G	c.(2749-2751)TAT>TGT	p.Y917C	COBLL1_uc002uco.1_Missense_Mutation_p.Y648C|COBLL1_uc002ucq.1_Missense_Mutation_p.Y879C|COBLL1_uc002ucr.1_Missense_Mutation_p.Y917C|COBLL1_uc002ucn.1_Missense_Mutation_p.Y345C	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	COBL-like 1	955										ovary(2)|pancreas(1)	3														0.298507	56.283685	58.709297	20	47	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	165259512	165259512	3792	2	T	C	C	49	49	COBLL1	C	4	4
TTN	7273	broad.mit.edu	36	2	179162725	179162725	+	Missense_Mutation	SNP	G	A	A			TCGA-14-1823-01	TCGA-14-1823-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179162725G>A	uc002umr.1	-	c.54269C>T	c.(54268-54270)ACT>ATT	p.T18090I	TTN_uc002ums.1_Missense_Mutation_p.T11785I|TTN_uc010frc.1_Missense_Mutation_p.T11718I|TTN_uc010frd.1_Missense_Mutation_p.T11593I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	19017										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153										8722				0.165746	116.164268	154.541515	60	302	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179162725	179162725	17290	2	G	A	A	36	36	TTN	A	2	2
NEU2	4759	broad.mit.edu	36	2	233607818	233607818	+	Missense_Mutation	SNP	C	T	T			TCGA-14-1823-01	TCGA-14-1823-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:233607818C>T	uc002vtu.1	+	c.950C>T	c.(949-951)GCC>GTC	p.A317V		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	neuraminidase 2	317							exo-alpha-sialidase activity				0		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)												0.213058	131.163258	153.255697	62	229	CC		KEEP	---	---	---	---	capture		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Missense_Mutation	SNP	233607818	233607818	10741	2	C	T	T	26	26	NEU2	T	2	2
ANO7	50636	broad.mit.edu	36	2	241798643	241798643	+	Missense_Mutation	SNP	G	A	A			TCGA-14-1823-01	TCGA-14-1823-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:241798643G>A	uc002wax.2	+	c.1708G>A	c.(1708-1710)GTC>ATC	p.V570I		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	transmembrane protein 16G isoform NGEP long	570	Helical; (Potential).					cell junction|chloride channel complex|cytosol	chloride channel activity			pancreas(2)|central_nervous_system(1)	3														0.27451	66.553491	71.227536	28	74	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	241798643	241798643	710	2	G	A	A	40	40	ANO7	A	1	1
HEATR5B	54497	broad.mit.edu	36	2	37118583	37118583	+	Silent	SNP	T	G	G			TCGA-14-1823-01	TCGA-14-1823-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:37118583T>G	uc002rpp.1	-	c.3135A>C	c.(3133-3135)GCA>GCC	p.A1045A		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1045							binding			ovary(5)|breast(1)	6		all_hematologic(82;0.21)												0.179487	10.394327	14.175588	7	32	TT		KEEP	---	---	---	---	capture			Silent	SNP	37118583	37118583	7315	2	T	G	G	55	55	HEATR5B	G	4	4
OTX1	5013	broad.mit.edu	36	2	63136529	63136529	+	Silent	SNP	C	G	G			TCGA-14-1823-01	TCGA-14-1823-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:63136529C>G	uc002scd.1	+	c.639C>G	c.(637-639)GGC>GGG	p.G213G		NM_014562	NP_055377	P32242	OTX1_HUMAN	orthodenticle homeobox 1	213						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(2)	2	Lung NSC(7;0.121)|all_lung(7;0.211)													0.266667	13.293718	15.684182	12	33	CC		KEEP	---	---	---	---	capture			Silent	SNP	63136529	63136529	11733	2	C	G	G	27	27	OTX1	G	3	3
NKIRAS1	28512	broad.mit.edu	36	3	23917518	23917518	+	Missense_Mutation	SNP	C	A	A			TCGA-14-1823-01	TCGA-14-1823-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:23917518C>A	uc003ccj.1	-	c.121G>T	c.(121-123)GAT>TAT	p.D41Y	NKIRAS1_uc003cck.1_Missense_Mutation_p.D41Y|NKIRAS1_uc003ccl.1_Missense_Mutation_p.D41Y|NKIRAS1_uc003ccm.1_Missense_Mutation_p.D41Y	NM_020345	NP_065078	Q9NYS0	KBRS1_HUMAN	kappa B-ras 1	41	Effector region.				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity				0														0.266667	103.006471	111.136661	44	121	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23917518	23917518	10845	3	C	A	A	32	32	NKIRAS1	A	3	3
ACTR8	93973	broad.mit.edu	36	3	53885016	53885016	+	Missense_Mutation	SNP	G	A	A			TCGA-14-1823-01	TCGA-14-1823-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:53885016G>A	uc003dhd.1	-	c.910C>T	c.(910-912)CGG>TGG	p.R304W	ACTR8_uc003dhb.1_Missense_Mutation_p.R54C|ACTR8_uc003dhc.1_Missense_Mutation_p.R193W	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	actin-related protein 8	304					cell division|mitosis	chromosome|nucleus				ovary(1)|central_nervous_system(1)	2														0.286885	93.980589	98.947575	35	87	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)	Missense_Mutation	SNP	53885016	53885016	218	3	G	A	A	37	37	ACTR8	A	1	1
OGG1	4968	broad.mit.edu	36	3	9773237	9773237	+	Missense_Mutation	SNP	G	A	A			TCGA-14-1823-01	TCGA-14-1823-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:9773237G>A	uc003bsm.1	+	c.830G>A	c.(829-831)CGT>CAT	p.R277H	OGG1_uc003bsh.1_Missense_Mutation_p.R277H|OGG1_uc003bsj.1_Missense_Mutation_p.R277H|OGG1_uc003bsi.1_Missense_Mutation_p.R277H|OGG1_uc003bsl.1_Missense_Mutation_p.R277H|OGG1_uc003bsk.1_Missense_Mutation_p.R277H|OGG1_uc003bsn.1_Intron|OGG1_uc003bso.1_Intron|OGG1_uc003bsr.1_Missense_Mutation_p.R42H|OGG1_uc010hcm.1_Intron|OGG1_uc003bsq.1_Intron|OGG1_uc003bsp.1_Missense_Mutation_p.R42H	NM_016821	NP_058214	O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase isoform 2a	277					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding				0	Medulloblastoma(99;0.227)									40				0.355556	88.979143	90.63156	32	58	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9773237	9773237	11250	3	G	A	A	40	40	OGG1	A	1	1
DDX60	55601	broad.mit.edu	36	4	169433166	169433166	+	Missense_Mutation	SNP	G	A	A			TCGA-14-1823-01	TCGA-14-1823-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:169433166G>A	uc003irp.1	-	c.2209C>T	c.(2209-2211)CGG>TGG	p.R737W		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	737							ATP binding|ATP-dependent helicase activity|RNA binding	p.R737W(1)		ovary(1)|central_nervous_system(1)|pancreas(1)	3		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)												0.230769	43.208943	48.390797	18	60	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(119;0.0485)	Missense_Mutation	SNP	169433166	169433166	4549	4	G	A	A	37	37	DDX60	A	1	1
GUF1	60558	broad.mit.edu	36	4	44375448	44375448	+	Missense_Mutation	SNP	C	G	G			TCGA-14-1823-01	TCGA-14-1823-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:44375448C>G	uc003gww.2	+	c.52C>G	c.(52-54)CGA>GGA	p.R18G	GUF1_uc010ifz.1_Non-coding_Transcript	NM_021927	NP_068746	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog	18					translation	mitochondrial inner membrane	GTP binding|GTPase activity				0														0.333333	10.395264	10.69084	4	8	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44375448	44375448	7179	4	C	G	G	19	19	GUF1	G	3	3
UGT2A3	79799	broad.mit.edu	36	4	69831548	69831548	+	Missense_Mutation	SNP	A	C	C			TCGA-14-1823-01	TCGA-14-1823-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:69831548A>C	uc003hef.2	-	c.998T>G	c.(997-999)GTG>GGG	p.V333G	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family,	333	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(1)	1														0.225	24.856133	27.633503	9	31	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69831548	69831548	17513	4	A	C	C	6	6	UGT2A3	C	4	4
WDR36	134430	broad.mit.edu	36	5	110467796	110467796	+	Missense_Mutation	SNP	C	G	G			TCGA-14-1823-01	TCGA-14-1823-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:110467796C>G	uc003kpd.1	+	c.920C>G	c.(919-921)GCT>GGT	p.A307G	WDR36_uc010jbu.1_Non-coding_Transcript	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	WD repeat domain 36	307	WD 3.				response to stimulus|rRNA processing|visual perception	small-subunit processome				ovary(1)	1		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)												0.196429	7.652652	12.584635	11	45	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)	Missense_Mutation	SNP	110467796	110467796	17863	5	C	G	G	28	28	WDR36	G	3	3
SLC4A9	83697	broad.mit.edu	36	5	139721866	139721866	+	Silent	SNP	A	C	C			TCGA-14-1823-01	TCGA-14-1823-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:139721866A>C	uc003lfm.2	+	c.714A>C	c.(712-714)GCA>GCC	p.A238A	SLC4A9_uc003lfj.2_Silent_p.A214A|SLC4A9_uc003lfl.2_Silent_p.A214A|SLC4A9_uc003lfk.2_Silent_p.A214A	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate	238	Cytoplasmic (Potential).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			large_intestine(1)	1														0.3	6.889183	7.709329	6	14	AA		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Silent	SNP	139721866	139721866	15157	5	A	C	C	6	6	SLC4A9	C	4	4
NIPAL4	348938	broad.mit.edu	36	5	156822902	156822902	+	Missense_Mutation	SNP	C	G	G			TCGA-14-1823-01	TCGA-14-1823-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:156822902C>G	uc003lwx.2	+	c.446C>G	c.(445-447)ACG>AGG	p.T149R	ADAM19_uc003lww.1_Intron|NIPAL4_uc010jin.1_Missense_Mutation_p.R84G	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN	ichthyin protein	149	Cytoplasmic (Potential).					integral to membrane	receptor activity				0														0.2	6.826174	8.973206	5	20	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	156822902	156822902	10828	5	C	G	G	19	19	NIPAL4	G	3	3
T	6862	broad.mit.edu	36	6	166491960	166491960	+	Missense_Mutation	SNP	C	T	T			TCGA-14-1823-01	TCGA-14-1823-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:166491960C>T	uc003qut.1	-	c.1144G>A	c.(1144-1146)GCG>ACG	p.A382T	T_uc003quu.1_Missense_Mutation_p.A381T|T_uc003quv.1_Missense_Mutation_p.A323T	NM_003181	NP_003172	O15178	BRAC_HUMAN	transcription factor T	381					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)												0.285714	44.98306	47.803705	20	50	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)	Missense_Mutation	SNP	166491960	166491960	16009	6	C	T	T	27	27	T	T	1	1
KCNQ5	56479	broad.mit.edu	36	6	73770426	73770426	+	Missense_Mutation	SNP	G	T	T			TCGA-14-1823-01	TCGA-14-1823-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:73770426G>T	uc003pgk.1	+	c.473G>T	c.(472-474)AGT>ATT	p.S158I	KCNQ5_uc003pgj.2_Missense_Mutation_p.S158I|KCNQ5_uc010kat.1_Missense_Mutation_p.S158I	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	158	Helical; Name=Segment S2; (Potential).				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)	6		all_epithelial(107;0.116)|Lung NSC(302;0.219)				GBM(142;1375 1859 14391 23261 44706)								0.276316	58.33743	61.764082	21	55	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Missense_Mutation	SNP	73770426	73770426	8391	6	G	T	T	36	36	KCNQ5	T	3	3
COL12A1	1303	broad.mit.edu	36	6	75914894	75914894	+	Missense_Mutation	SNP	C	T	T			TCGA-14-1823-01	TCGA-14-1823-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:75914894C>T	uc010kbb.1	-	c.4187G>A	c.(4186-4188)CGA>CAA	p.R1396Q	COL12A1_uc010kbc.1_Missense_Mutation_p.R232Q|COL12A1_uc003phs.1_Missense_Mutation_p.R1396Q|COL12A1_uc003pht.1_Missense_Mutation_p.R232Q	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1396	Fibronectin type-III 9.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)	8														0.205128	36.459608	42.74808	16	62	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75914894	75914894	3807	6	C	T	T	31	31	COL12A1	T	1	1
MUC17	140453	broad.mit.edu	36	7	100472096	100472096	+	Missense_Mutation	SNP	C	G	G			TCGA-14-1823-01	TCGA-14-1823-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100472096C>G	uc003uxp.1	+	c.10679C>G	c.(10678-10680)ACT>AGT	p.T3560S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17	3560	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|breast(3)|lung(2)	19	Lung NSC(181;0.136)|all_lung(186;0.182)													0.194006	306.256189	361.637348	123	511	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100472096	100472096	10368	7	C	G	G	20	20	MUC17	G	3	3
PRKRIP1	79706	broad.mit.edu	36	7	101823871	101823871	+	Missense_Mutation	SNP	G	A	A			TCGA-14-1823-01	TCGA-14-1823-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:101823871G>A	uc003uzh.2	+	c.8G>A	c.(7-9)AGC>AAC	p.S3N	PRKRIP1_uc003uzf.2_Intron|PRKRIP1_uc003uzg.2_Intron	NM_024653	NP_078929	Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)	3	Interaction with EIF2AK2 (By similarity).					nucleolus				ovary(1)	1														0.333333	8.147253	8.527811	5	10	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	101823871	101823871	12968	7	G	A	A	34	34	PRKRIP1	A	2	2
DGKI	9162	broad.mit.edu	36	7	136913579	136913579	+	Nonsense_Mutation	SNP	G	A	A			TCGA-14-1823-01	TCGA-14-1823-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:136913579G>A	uc003vtt.1	-	c.1675C>T	c.(1675-1677)CGA>TGA	p.R559*	DGKI_uc003vtu.1_Nonsense_Mutation_p.R259*	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	559					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2														0.162791	27.197008	36.490234	14	72	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	136913579	136913579	4650	7	G	A	A	37	37	DGKI	A	5	1
FERD3L	222894	broad.mit.edu	36	7	19151432	19151432	+	Missense_Mutation	SNP	G	A	A			TCGA-14-1823-01	TCGA-14-1823-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:19151432G>A	uc003suo.1	-	c.79C>T	c.(79-81)CGC>TGC	p.R27C		NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN	nephew of atonal 3	27					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription repressor activity			large_intestine(1)	1														0.103226	11.507047	35.792193	16	139	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19151432	19151432	6053	7	G	A	A	40	40	FERD3L	A	1	1
UPP1	7378	broad.mit.edu	36	7	48113110	48113110	+	Missense_Mutation	SNP	G	T	T			TCGA-14-1823-01	TCGA-14-1823-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:48113110G>T	uc003toj.1	+	c.552G>T	c.(550-552)AAG>AAT	p.K184N	UPP1_uc003tok.1_Missense_Mutation_p.K184N|UPP1_uc003tol.1_Missense_Mutation_p.K184N|UPP1_uc003tom.1_Non-coding_Transcript|UPP1_uc003ton.1_Missense_Mutation_p.K47N|UPP1_uc003too.1_Missense_Mutation_p.K47N	NM_181597	NP_853628	Q16831	UPP1_HUMAN	uridine phosphorylase 1	184					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity				0														0.09622	11.592678	59.167341	28	263	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48113110	48113110	17573	7	G	T	T	33	33	UPP1	T	3	3
FZD1	8321	broad.mit.edu	36	7	90732605	90732605	+	Missense_Mutation	SNP	A	T	T			TCGA-14-1823-01	TCGA-14-1823-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:90732605A>T	uc003ula.1	+	c.474A>T	c.(472-474)AAA>AAT	p.K158N		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	frizzled 1	158	FZ.|Extracellular (Potential).				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|regulation of gene-specific transcription from RNA polymerase II promoter|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding				0	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)									79				0.171026	156.381365	207.23866	85	412	AA		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.0134)		Missense_Mutation	SNP	90732605	90732605	6379	7	A	T	T	3	3	FZD1	T	4	4
LRP12	29967	broad.mit.edu	36	8	105572469	105572469	+	Missense_Mutation	SNP	G	C	C			TCGA-14-1823-01	TCGA-14-1823-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:105572469G>C	uc003yma.1	-	c.2188C>G	c.(2188-2190)CTC>GTC	p.L730V	LRP12_uc003ylz.1_Missense_Mutation_p.L136V	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	730	Cytoplasmic (Potential).				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0														0.329114	80.021968	82.06769	26	53	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		Missense_Mutation	SNP	105572469	105572469	9327	8	G	C	C	36	36	LRP12	C	3	3
PSD3	23362	broad.mit.edu	36	8	18477005	18477005	+	Missense_Mutation	SNP	A	G	G			TCGA-14-1823-01	TCGA-14-1823-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:18477005A>G	uc003wza.1	-	c.2552T>C	c.(2551-2553)TTG>TCG	p.L851S	PSD3_uc003wyx.2_Missense_Mutation_p.L180S|PSD3_uc003wyy.1_Missense_Mutation_p.L317S|PSD3_uc003wyz.1_Missense_Mutation_p.L152S	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	ADP-ribosylation factor guanine nucleotide	852	PH.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3														0.291667	89.561651	94.237623	35	85	AA		KEEP	---	---	---	---	capture		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	Missense_Mutation	SNP	18477005	18477005	13101	8	A	G	G	5	5	PSD3	G	4	4
LGI3	203190	broad.mit.edu	36	8	22062422	22062422	+	Silent	SNP	C	A	A			TCGA-14-1823-01	TCGA-14-1823-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:22062422C>A	uc003xav.1	-	c.843G>T	c.(841-843)GTG>GTT	p.V281V	LGI3_uc010ltu.1_Silent_p.V257V	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	281	EAR 2.				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				ovary(1)	1														0.375	25.968239	26.297778	9	15	CC		KEEP	---	---	---	---	capture		Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)	Silent	SNP	22062422	22062422	9079	8	C	A	A	25	25	LGI3	A	3	3
PRKDC	5591	broad.mit.edu	36	8	48911503	48911503	+	Missense_Mutation	SNP	G	C	C			TCGA-14-1823-01	TCGA-14-1823-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:48911503G>C	uc003xqi.1	-	c.7900C>G	c.(7900-7902)CAG>GAG	p.Q2634E	PRKDC_uc003xqj.1_Missense_Mutation_p.Q2634E	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2634	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of gene-specific transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				Esophageal Squamous(79;1091 1253 12329 31680 40677)				1566				0.2	6.315215	7.572209	3	12	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48911503	48911503	12964	8	G	C	C	46	46	PRKDC	C	3	3
SNAI2	6591	broad.mit.edu	36	8	49994069	49994069	+	Missense_Mutation	SNP	G	T	T			TCGA-14-1823-01	TCGA-14-1823-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:49994069G>T	uc003xqp.1	-	c.657C>A	c.(655-657)AAC>AAA	p.N219K		NM_003068	NP_003059	O43623	SNAI2_HUMAN	snail 2	219	C2H2-type 4.				canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)												0.147059	26.453796	38.663763	15	87	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49994069	49994069	15327	8	G	T	T	48	48	SNAI2	T	3	3
ZFHX4	79776	broad.mit.edu	36	8	77925924	77925924	+	Missense_Mutation	SNP	G	C	C			TCGA-14-1823-01	TCGA-14-1823-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:77925924G>C	uc003yav.1	+	c.4077G>C	c.(4075-4077)TTG>TTC	p.L1359F	ZFHX4_uc003yau.1_Missense_Mutation_p.L1404F|ZFHX4_uc003yaw.1_Missense_Mutation_p.L1359F	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1359	C2H2-type 10.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15														0.173077	18.241739	23.491635	9	43	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(89;0.0895)		Missense_Mutation	SNP	77925924	77925924	18223	8	G	C	C	47	47	ZFHX4	C	3	3
C9orf125	84302	broad.mit.edu	36	9	103278910	103278910	+	Missense_Mutation	SNP	C	A	A			TCGA-14-1823-01	TCGA-14-1823-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:103278910C>A	uc004bbm.1	-	c.286G>T	c.(286-288)GCC>TCC	p.A96S	C9orf125_uc010mte.1_Missense_Mutation_p.A96S	NM_032342	NP_115718	Q9BRR3	CI125_HUMAN	hypothetical protein LOC84302	96						integral to membrane					0		Acute lymphoblastic leukemia(62;0.0527)												0.1375	12.775074	22.947604	11	69	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	103278910	103278910	2567	9	C	A	A	26	26	C9orf125	A	3	3
NUP214	8021	broad.mit.edu	36	9	133012785	133012785	+	Missense_Mutation	SNP	C	G	G			TCGA-14-1823-01	TCGA-14-1823-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:133012785C>G	uc004cag.1	+	c.2033C>G	c.(2032-2034)TCT>TGT	p.S678C	NUP214_uc004caf.1_Missense_Mutation_p.S667C|NUP214_uc004cah.1_Missense_Mutation_p.S668C|NUP214_uc010mzf.1_Intron|NUP214_uc004cai.1_Missense_Mutation_p.S108C	NM_005085	NP_005076	P35658	NU214_HUMAN	nucleoporin 214kDa	678	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			breast(3)|ovary(2)|lung(1)|central_nervous_system(1)	7	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)				Pancreas(4;24 48 25510 30394 32571)				1058				0.251908	90.813981	98.136239	33	98	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	Missense_Mutation	SNP	133012785	133012785	11167	9	C	G	G	32	32	NUP214	G	3	3
RAPGEF1	2889	broad.mit.edu	36	9	133467342	133467342	+	Missense_Mutation	SNP	T	C	C			TCGA-14-1823-01	TCGA-14-1823-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:133467342T>C	uc004cbb.1	-	c.1924A>G	c.(1924-1926)AAA>GAA	p.K642E	RAPGEF1_uc004cbc.1_Missense_Mutation_p.K624E|RAPGEF1_uc004cbd.1_Missense_Mutation_p.K629E|RAPGEF1_uc010mzl.1_Missense_Mutation_p.K122E|RAPGEF1_uc010mzm.1_Missense_Mutation_p.K123E|RAPGEF1_uc010mzn.1_Missense_Mutation_p.K240E|RAPGEF1_uc010mzo.1_Missense_Mutation_p.K70E|RAPGEF1_uc010mzp.1_Missense_Mutation_p.K101E|RAPGEF1_uc010mzq.1_Missense_Mutation_p.K208E|RAPGEF1_uc010mzr.1_Missense_Mutation_p.K209E|RAPGEF1_uc010mzs.1_Missense_Mutation_p.K156E	NM_198679	NP_941372	Q13905	RPGF1_HUMAN	guanine nucleotide-releasing factor 2 isoform b	624					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			ovary(2)|lung(1)|skin(1)	4		Myeloproliferative disorder(178;0.204)												0.357143	7.52883	7.840172	5	9	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)	Missense_Mutation	SNP	133467342	133467342	13503	9	T	C	C	62	62	RAPGEF1	C	4	4
NOXA1	10811	broad.mit.edu	36	9	139447519	139447519	+	Missense_Mutation	SNP	G	T	T			TCGA-14-1823-01	TCGA-14-1823-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:139447519G>T	uc004cmu.1	+	c.892G>T	c.(892-894)GAC>TAC	p.D298Y	NOXA1_uc004cmv.2_Missense_Mutation_p.D298Y|NOXA1_uc010nch.1_Missense_Mutation_p.D242Y	NM_006647	NP_006638	Q86UR1	NOXA1_HUMAN	NADPH oxidase activator 1	298			Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate).		regulation of hydrogen peroxide metabolic process|regulation of respiratory burst	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity				0	all_cancers(76;0.0926)													0.266667	9.619848	10.340862	4	11	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)	Missense_Mutation	SNP	139447519	139447519	10964	9	G	T	T	41	41	NOXA1	T	3	3
NFX1	4799	broad.mit.edu	36	9	33341731	33341731	+	Silent	SNP	G	A	A			TCGA-14-1823-01	TCGA-14-1823-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:33341731G>A	uc003zsr.1	+	c.2601G>A	c.(2599-2601)CCG>CCA	p.P867P	SUGT1P1_uc010mjq.1_Intron|NFX1_uc003zsp.1_Silent_p.P866P|NFX1_uc010mjr.1_Silent_p.P867P|NFX1_uc003zsq.1_Silent_p.P866P	NM_002504	NP_002495	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	866	NF-X1-type 8.				inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1														0.3125	42.933711	44.964949	20	44	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)	Silent	SNP	33341731	33341731	10787	9	G	A	A	40	40	NFX1	A	1	1
VPS13A	23230	broad.mit.edu	36	9	79056975	79056975	+	Silent	SNP	T	C	C			TCGA-14-1823-01	TCGA-14-1823-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:79056975T>C	uc004akr.1	+	c.2175T>C	c.(2173-2175)GAT>GAC	p.D725D	VPS13A_uc004akp.2_Silent_p.D725D|VPS13A_uc004akq.2_Silent_p.D725D|VPS13A_uc004aks.1_Silent_p.D725D	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	725					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	7														0.338346	138.136796	141.20886	45	88	TT		KEEP	---	---	---	---	capture			Silent	SNP	79056975	79056975	17756	9	T	C	C	49	49	VPS13A	C	4	4
HUWE1	10075	broad.mit.edu	36	X	53607456	53607456	+	Missense_Mutation	SNP	C	T	T			TCGA-14-1823-01	TCGA-14-1823-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:53607456C>T	uc004dso.1	-	c.7081G>A	c.(7081-7083)GGA>AGA	p.G2361R	HUWE1_uc004dsn.1_Missense_Mutation_p.G1185R|HUWE1_uc004dsp.1_Missense_Mutation_p.G2361R	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	2361	Glu-rich.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17														0.157895	11.728465	15.966611	6	32	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53607456	53607456	7761	23	C	T	T	23	23	HUWE1	T	1	1
AR	367	broad.mit.edu	36	X	66683198	66683198	+	Silent	SNP	C	T	T			TCGA-14-1823-01	TCGA-14-1823-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:66683198C>T	uc004dwu.1	+	c.1485C>T	c.(1483-1485)AGC>AGT	p.S495S		NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	494	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|positive regulation of cell proliferation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|promoter binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)					177				0.4	9.795062	9.883227	4	6	CC		KEEP	---	---	---	---	capture			Silent	SNP	66683198	66683198	847	23	C	T	T	27	27	AR	T	1	1
P2RY10	27334	broad.mit.edu	36	X	78103117	78103117	+	Silent	SNP	C	T	T			TCGA-14-1823-01	TCGA-14-1823-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:78103117C>T	uc004ede.1	+	c.444C>T	c.(442-444)TAC>TAT	p.Y148Y	P2RY10_uc004edf.1_Silent_p.Y148Y|P2RY10_uc010nmf.1_Silent_p.Y148Y	NM_014499	NP_938147	O00398	P2Y10_HUMAN	G-protein coupled purinergic receptor P2Y10	148	Cytoplasmic (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)|lung(1)	3														0.202312	73.543365	87.775913	35	138	CC		KEEP	---	---	---	---	capture			Silent	SNP	78103117	78103117	11760	23	C	T	T	19	19	P2RY10	T	1	1
CACNA1A	773	broad.mit.edu	36	19	13180694	13180696	+	In_Frame_Del	DEL	TGG	-	-			TCGA-14-1823-01	TCGA-14-1823-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:13180694_13180696delTGG	uc010dzd.1	-	c.6672_6674delCCA	c.(6670-6675)CACCAT>CAT	p.2224_2225HH>H	CACNA1A_uc002mwx.2_In_Frame_Del_p.912_913HH>H|CACNA1A_uc010dzc.1_In_Frame_Del_p.1744_1745HH>H|CACNA1A_uc002mwz.2_In_Frame_Del_p.2224_2225HH>H|CACNA1A_uc002mwy.2_In_Frame_Del_p.2218_2219HH>H|CACNA1A_uc010dze.1_In_Frame_Del_p.2219_2220HH>H|CACNA1A_uc002mwv.2_In_Frame_Del_p.723_724HH>H	NM_023035	NP_075461	O00555	CAC1A_HUMAN	Voltage-dependent P/Q-type calcium channel subunit alpha-1A (Voltage- gated calcium channel subunit alpha Cav2.1) (Calcium channel, L type, alpha-1 polypeptide isoform 4) (Brain calcium channel I) (BI).	2219_2220	Cytoplasmic (Potential).|Poly-His.				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)									0.33			3	6				---	---	---	---	capture_indel			In_Frame_Del	DEL	13180694	13180696	2654	19	TGG	-	-	51	51	CACNA1A	-	5	5
ANKRD20A3	441425	broad.mit.edu	36	9	67524611	67524614	+	Frame_Shift_Del	DEL	AAAG	-	-			TCGA-14-1823-01	TCGA-14-1823-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:67524611_67524614delAAAG	uc004aeu.1	+	c.561_564delAAAG	c.(559-564)AAAAGGfs	p.K187fs	ANKRD20A3_uc010mnn.1_Frame_Shift_Del_p.K187fs	NM_001012419	NP_115626	Q5VUR7	A20A3_HUMAN	ankyrin repeat domain 20 family, member A3	187_188	ANK 4.										0														0.36			4	7				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	67524611	67524614	654	9	AAAG	-	-	1	1	ANKRD20A3	-	5	5
